Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 41 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 81857
Gene Symbol: MED25
MED25 		Q71SY5 mediator complex subunit 25 Transcription factor 15 0.582 0.654 8.4E-07 0.100 None 0 2